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Atxn3 Gene Detail
Summary
  • Symbol
    Atxn3
  • Name
    ataxin 3
  • Synonyms
    2210008M02Rik, ataxin-3, Atx3, Mjd, MJD1, Sca3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1099442
    NCBI Gene: 110616
  • Gene Overview
    MyGene.info: ATXN3
Location & Maps
more
  • Sequence Map
    Chr12:101918901-101958246 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39346 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 51.32 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ATXN3, ataxin 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATXN3, ataxin 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AT3, ATX3, JOS, MJD, MJD1, SCA3
  • Links
    NCBI Gene ID: 4287
    neXtProt AC: NX_P54252

  • Chr Location
    14q21; chr14:92058552-92106621 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3658
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: ATXN3
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human ATXN3 associations

Human Disease Mouse Models
       Machado-Joseph Disease; MJD   OMIM: 109150 View 17 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    12 with disease annotations
  • References
    14 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 3 alleles in 3 genetic backgrounds
    92 phenotypes from multigenic genotypes
    67 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    59
  • Chemically induced (other)
    1
  • Gene trapped
    34
  • Targeted
    6
  • Transgenic
    18
  • Genomic Mutations
    1 involving Atxn3
  • Incidental Mutations
    APF
Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030696 VEGA Gene Model | MGI Sequence Detail 39346 C57BL/6J ±  kb
transcript OTTMUST00000075997 VEGA | MGI Sequence Detail 5363 Not Applicable  
polypeptide OTTMUSP00000039935 VEGA | MGI Sequence Detail 355 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    271 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 79
    cDNA 79

    Microarray probesets 5
Other
Accession IDs
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MGI:1923952, MGI:2144838, MGI:2144872
References
more
  • Summaries
    All 67
    Developmental Gene Expression 4
    Diseases 14
    Gene Ontology 13
    Phenotypes 67
  • Earliest
    J:43214 Kawaguchi Y, et al., CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet. 1994 Nov;8(3):221-8
  • Latest
    J:219232 Ramani B, et al., A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript. Hum Mol Genet. 2015 Mar 1;24(5):1211-24

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory